Varaico: Literature-Extracted Genetic Variants

ERBB4

1,485 papers

RefSeq Summary

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a trans...

Pfam Domains

Recep_L_domainaa 55–167UCSCReceptor L domain

Furin-likeaa 176–335UCSCFurin-like cysteine rich region

Recep_L_domainaa 358–478UCSCReceptor L domain

GF_recep_IVaa 502–634UCSCGrowth factor receptor domain IV

TM_ErbB1aa 653–688UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

PK_Tyr_Ser-Thraa 718–974UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 4

HGNC Alias Symbols

ALS19; HER4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005235.3

p.V857L

c.2569G>C

Surrounding Variants

2 papers

NM_005235.3

p.V857L

c.2569G>T

1 paper

NM_005235.3

p.H856Y

c.2566C>T

1 paper

NM_005235.3

p.K858Q

c.2572A>C

2 papers

NM_005235.3

p.N855K

c.2565C>G

2 papers

NM_005235.3

p.N855K

c.2565C>A

2 papers

NM_005235.3

p.N855T

c.2564A>C

1 paper

NM_005235.3

p.P854L

c.2561C>T

1 paper

NM_005235.3

p.P854R

c.2561C>G

4 papers

NM_005235.3

p.P854Q

c.2561C>A

1 paper

NM_005235.3

p.P854S

c.2560C>T

1 paper

NM_005235.3

p.S853A

c.2557T>G

7 papers

NM_005235.3

p.D861Y

c.2581G>T